Alpha‐synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees

Multiplications of the SNCA gene that encodes alpha‐synuclein are a rare cause of autosomal dominant Parkinson's disease (PD).

[1]  A. Antonini,et al.  Successful subthalamic stimulation in genetic Parkinson’s disease caused by duplication of the α-synuclein gene , 2011, Journal of Neurology.

[2]  Michael J. Devine,et al.  Parkinson's disease and α‐synuclein expression , 2011, Movement disorders : official journal of the Movement Disorder Society.

[3]  J. Hardy,et al.  Young‐onset parkinsonism due to homozygous duplication of α‐synuclein in a consanguineous family , 2012, Movement disorders : official journal of the Movement Disorder Society.

[4]  M. Farrer,et al.  Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication , 2007, Neurology.

[5]  Robert L. Nussbaum,et al.  Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease , 1997 .

[6]  Philippe Amouyel,et al.  Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. , 2004, Lancet.

[7]  A Dürr,et al.  Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. , 2004, Lancet.

[8]  A. Singleton,et al.  Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. , 2006, Annals of neurology.

[9]  M. Farrer,et al.  Expanding the clinical phenotype of SNCA duplication carriers , 2009, Movement disorders : official journal of the Movement Disorder Society.

[10]  A. Antonini,et al.  alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. , 2010, Parkinsonism & related disorders.

[11]  A. Singleton,et al.  Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease , 2006 .

[12]  A. Kakita,et al.  Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia. , 2008, Archives of neurology.

[13]  A. Brice,et al.  α-Synuclein gene duplication is present in sporadic Parkinson disease , 2008, Neurology.

[14]  K. Jellinger,et al.  Neuropathological spectrum of synucleinopathies , 2003, Movement disorders : official journal of the Movement Disorder Society.

[15]  R. Barker,et al.  A case of late onset sporadic Parkinson's disease with an A53T mutation in alpha-synuclein. , 2005, Journal of neurology, neurosurgery, and psychiatry.

[16]  Matthew J. Farrer,et al.  Comparison of kindreds with parkinsonism and α‐synuclein genomic multiplications , 2004 .

[17]  B. Jeon,et al.  α-Synuclein gene duplication is present in sporadic Parkinson disease , 2008, Neurology.

[18]  R. Krüger,et al.  Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. , 1998, Nature genetics.

[19]  関根 威.  Clinical course of the first Asian family with parkinsonism related to SNCA triplication , 2011 .

[20]  T. Ikeuchi,et al.  PROMINENT PSYCHIATRIC SYMPTOMS AND GLUCOSE HYPOMETABOLISM IN A FAMILY WITH A SNCA DUPLICATION , 2008, Neurology.

[21]  J. Hoenicka,et al.  The new mutation, E46K, of α‐synuclein causes parkinson and Lewy body dementia , 2004, Annals of neurology.

[22]  Philippe Amouyel,et al.  α-synuclein locus duplication as a cause of familial Parkinson's disease , 2004, The Lancet.

[23]  M. Farrer,et al.  Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. , 2004, Annals of neurology.

[24]  Michael J. Devine,et al.  Parkinson's Disease and alpha-Synuclein Expression , 2011 .

[25]  R. Wade-Martins,et al.  A BACwards glance at neurodegeneration: molecular insights into disease from LRRK2, SNCA and MAPT BAC-transgenic mice. , 2011, Biochemical Society transactions.

[26]  M G Spillantini,et al.  Alpha-synuclein in Lewy bodies. , 1997, Nature.

[27]  Janel O. Johnson,et al.  Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred) , 2011, Movement disorders : official journal of the Movement Disorder Society.

[28]  A. Destée,et al.  Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. , 2009, Archives of neurology.

[29]  R. Barker,et al.  A case of late onset sporadic Parkinson’s disease with an A53T mutation in α-synuclein , 2005, Journal of Neurology, Neurosurgery & Psychiatry.

[30]  J. Y. Kim,et al.  Does hereditary hemochromatosis influence the age of onset of Huntington's disease? , 2010, Movement disorders : official journal of the Movement Disorder Society.

[31]  J. Serratosa,et al.  A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure , 2012, Movement disorders : official journal of the Movement Disorder Society.

[32]  A Dürr,et al.  Causal relation between α-synuclein locus duplication as a cause of familial Parkinson's disease , 2004, The Lancet.

[33]  S E Ide,et al.  Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. , 1997, Science.